Abstract:
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency characterized by the inability of the affected individual to clear Epstein-Barr virus (EBV) resulting in hemophagocytic lymphohistiocytosis (HLH) in 55% to 76% of male individuals carrying mutations in SH2D1A (XLP-1) or XIAP (XLP-2). Here, we reveal a novel SH2D1A mutation in a child with XLP.
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease
We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication